Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
- First Published September 19, 2024
Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs
- First Published August 16, 2024
cis-regulatory elements" > Probabilistic association of differentially expressed genes with cis-regulatory elements
- First Published April 17, 2024
Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands
- First Published April 20, 2021
Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data
- First Published January 2, 2018
A genome-wide interactome of DNA-associated proteins in the human liver
- First Published October 11, 2017
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- First Published April 10, 2017
Discovery and genotyping of structural variation from long-read haploid genome sequence data
- First Published November 28, 2016
A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity
- First Published November 9, 2016